Congenital hypothyroidism (patient information)

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What is congenital hypothyroidism?

Congenital hypothyroidism is a disorder that affects infants from birth and results from a partial or complete loss of thyroid function. Researches demonstrate mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes may be involved in the causes of congenital hypothyroidism. Usual signs and symptoms include increased birth weight, puffy face, swollen tongue, hoarse cry, low muscle tone, constipation, fatigue and weakness. Tests of serum thyroid-stimulating hormone (TSH) and T4 can tell the diagnosis. Treatment for congenital hypothyroidism is to replace the lacking thyroid hormone. Levothyroxine is the most commonly used medication for replacement. Without the complication of myxedema coma, many patients return to with proper treatment.

How do I know if my boby has congenital hypothyroidism and what are the symptoms of congenital hypothyroidism?

Some babies with congenital hypothyroidism do not appear any signs at birth. Some may have one or more of the following symptoms:

• Weight gain
• Puffy face
• Swollen tongue.
• Hoarse cry.
• Low muscle tone.
• Cold intolerance
• Persistent constipation
• Fatigue and weakness
• Little to no growth
• Neurological impairment

Who is at risk for congenital hypothyroidism?

Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes result in congenital hypothyroidism.

How to know you have congenital hypothyroidism?

• Laboratory tests of determination thyroid function, including serum thyroid-stimulating hormone (TSH) and T4 test.

• TSH test: This test is the most accurate measure of thyroid function. General speaking, a TSH reading above normal means a person has hypothyroidism and a reading below normal means a person has hyperthyroidism.
• T4 test: This test measures the actual amount of circulating thyroid hormone in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal.

• Bone age test: In babies with hypothyroidism, they show an immature appearance.

When to seek urgent medical care?

Call your baby's health care provider if symptoms of congenital hypothyroidism appear. If your baby experiences either of the following symptoms, seeking urgent medical care as soon as possible.

• Neurological impairment
• Coma

Treatment options

The purpose of treatment is to replace the lacking thyroid hormone as early as possible. The hormone replacement therapy is necessary for normal brain and intellectual development. The earlier the treatment begins, the better the outlook will get for most children with congenital hypothyroidism. Levothyroxine is the most commonly used medication. When your baby is taking thyroid hormone medications, regular blood tests need to be checked to ensure the hormone levels in a normal range.

Diseases with similar symptoms

• Rickets
• Down's syndrome
• Congenital megacolon

Where to find medical care for congenital hypothyroidism?

Directions to Hospitals Treating congenital hypothyroidism

Prevention of congenital hypothyroidism

There is no prevention for congenital hypothyroidism. A screening test in newborns between 24 and 72 hours old may be used to detect congenital hypothyroidism.

What to expect (Outook/Prognosis)?

Prognosis of congenital hypothyroidism depends on whether the baby starts thyroid hormone replacement therapy early. The earlier the treatment begins, the better outcome the baby will be.

Copyleft Sources

http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism

http://www.magicfoundation.org/www/docs/114.125/congenital_hypothyroidism_hypothyroid.html